PET117

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex IV deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Isolated cytochrome C oxidase deficiency

  0.37

• mitochondrial complex IV deficiency, nuclear type 19

  0.36

• neurodegenerative disease

  0.30

• systemic inflammatory response syndrome

  0.19

• liver disorder

  0.05

• phlebitis

  0.03

• Thrombophlebitis

  0.03

• placenta praevia

  0.02

• bronchial disorder

  0.02

• hepatocellular carcinoma

  0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.